100 ATS (显示 COL4a5 抗体) patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene. Study expanded the allelic repertoire of SLC2A10 by identifying two novel mutations.

GLUT10 (显示 SLC2A11 抗体) deficiency is associated with upregulation of the TGFbeta (显示 TGFB1 抗体) pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity

report that two mouse models, homozygous respectively for G128E and S150F missense substitutions in glut10 do not present any of the vascular, anatomical, or immunohistological abnormalities as encountered in human Arterial tortuosity syndrome patients.

SLC2A10 抗原简介

蛋白简介

This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.